A research scientist in deCODE genetics, Iceland studying somatic evolution in cancer, normal tissues and complex traits. Previously at the Sanger Institute.
Reykjavik, Iceland
Joined March 2018
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Today on #WorldPsoriasisDay, please check out our manuscript that is just out in @NatureGenet about somatic evolution in the skin of psoriasis patients
nature.com/articles/s41588-0…
Sigurgeir Olafsson retweeted
UK biobank WGS 500k data available
science.org/content/article/…
Check out this work by my @decodegenetics colleagues, Simon Stacey and Florian Zink, on clonal hematopoiesis that appeared in @NatureGenet today:
nature.com/articles/s41588-0…
They show that you can call CH based on a mutation "barcode" in the absence of a typical driver mutation.
Very importantly, this large-scale study of two biobank scale cohorts failed to find evidence that clonal hematopoiesis causes heart disease. It suggests that the associations previously reported are the result of confounding between smoking behaviour and these phenotypes.
The signature also shows a very strong transcription strand bias. This is driven partly by transcription coupled repair but also by transcription-coupled damage, similar to what has been described for SBS16 in the liver.
Many thanks to all the co-authors. @anderson_carl, @andrewrjlawson, @Axel_R_Huber, @imartincorena and others not on twitter. It was a pleasure working with you on this project.
Sigurgeir Olafsson retweeted
Check out this great piece of work describing somatic mutations in the normal small intestine. The cancer incidence of the small bowel is an order of magnitude lower than in the large intestine and yet the somatic mutation rate is the same. Must be explained by diff selection (?)
Our latest work about the landscape of somatic mutations in human small intestine epithelium and APOBEC mutagenesis is online @NatureGenet and it’s open access!
go.nature.com/3j4li2e
Check out this great piece of work describing somatic mutations in the normal small intestine. The cancer incidence of the small bowel is an order of magnitude lower than in the large intestine and yet the somatic mutation rate is the same. Must be explained by diff selection (?)
Our latest work about the landscape of somatic mutations in human small intestine epithelium and APOBEC mutagenesis is online @NatureGenet and it’s open access!
go.nature.com/3j4li2e
What a great lineup of speaker for #NSHGPM2022! I will present our meta-analysis of somatic substitutions and indels in several thousand colorectal cancers. First time @decodegenetics does large scale sequencing of a tumour cohort, but I don't think it will be the last
